Hannes P. Eggertsson

The sequences of 150,119 genomes in the UK biobank

The paper analyzes whole genome sequences of 150,119 UK Biobank individuals, identifying variants and associations with traits, and provides a haplotype reference panel for imputation.

Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

The paper uses long-read sequencing on 3,622 Icelanders to identify structural variants and their associations with diseases and traits.

PopDel identifies medium-size deletions jointly in tens of thousands of genomes

PopDel identifies medium-size deletions in tens of thousands of genomes with high accuracy and scalability.

Ratatosk - Hybrid error correction of long reads enables accurate variant calling and assembly

Ratatosk corrects long read errors using a de Bruijn graph and accurate short reads, improving variant calling and assembly accuracy.

read_haps: using read haplotypes to detect same species contamination in DNA sequences.

read_haps detects same-species contamination in DNA sequences by identifying three haplotypes from short read whole genome sequencing data.

Recurrence of de novo mutations in families

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.

Graphtyper: Population-scale genotyping using pangenome graphs

Graphtyper efficiently genotypes sequence variants in large populations using pangenome graphs, achieving high accuracy and scalability.